Dear Colleague,
Thank you for referring the young Vallis Vaillancour, born on 07/11/2022, to genetic consultation, whom I met today accompanied by his two parents to discuss a possible diagnosis of achondroplasia and organize his care.
Vallis has one healthy older sister, and the entire family is in good health with no reported medical history.
The pregnancy was monitored at the CH of Lorient. The mother reports having had a blood test during the pregnancy that would have diagnosed achondroplasia, but she does not have the report available today. 
Vallis was born normally at 39 GA + 1 day with an APGAR score of 9, a birth weight of 2590 g (2nd p), a height of 44.5 cm (0.17th p), and a HC of 36 cm (82nd p).
The birth went well. Follow-up is currently provided by the pediatrician. Recently, Vallis was hospitalized for pyelonephritis, with no ureteral malformation identified. He also presents with night sweats.
During the day, he is cared for at home. In terms of tone, he can hold his head upright. He rolls over from back to belly and pushes on his arms. The parents do not suspect any visual concerns.
On clinical examination today, he measures 59.5 cm (-3 SD; following his growth curve) for a weight of 6.5 kg (-3 SD, noting a break in the curve corresponding to the hospitalization for pyelonephritis), and a HC of 46.9 cm (+2 SD; following his curve). The oral cavity appears normal, and he does not yet have teeth. There is spontaneous flexion at the hips, which is reducible. He does not yet sit independently. He presents with dorsal kyphosis. No retraction is noted at other joints.
Discussion and conclusion:
Today, I meet Vallis, who presents with signs suggestive of achondroplasia. I propose to the parents to perform a blood test today to confirm the diagnosis.
We will not wait for the results to organize further examinations, including an MRI of the craniovertebral junction and a consultation with orthopedic surgery to discuss the potential use of a sitting brace.
In parallel, I provide a prescription for an ENT consultation to ensure there is no need for intervention regarding upper airway obstruction.
I also advise the parents to contact the CDC so that a multidisciplinary team can organize Vallis's follow-up, potentially including physiotherapy or psychomotricity.
Based on the results of the cerebral MRI and the ENT evaluation, we will likely organize a polysomnography at a later stage.
I will contact the family upon receipt of the genetic results and additional examinations, and I anticipate seeing them again in a few months.
We also discussed that, if the diagnosis is confirmed, a treatment is now available for patients over 2 years old, which the mother was already aware of.
Remaining at the disposal of the parents as well as yourself for any questions or needs in the meantime.
Best regards,